GABRB1: Gamma-Aminobutyric Acid Type A Receptor Subunit Beta1
GABRB1 gene encodes the beta1 subunit of the GABAA receptor, a ligand-gated chloride channel critical for inhibitory neurotransmission in the central nervous system.
Gene Information Card
| Symbol | GABRB1 |
|---|---|
| Full Name | Gamma-aminobutyric acid type A receptor subunit beta1 |
| Gene Type | protein-coding |
| Chromosomal Location | 4p12 |
| NCBI Gene ID | 2560 ncbi.nlm.nih.gov/gene/2560 |
| Ensembl ID | ENSG00000163288 |
| UniProt ID | P18505 |
| OMIM ID | 137190 |
| HGNC ID | 4081 |
| Aliases | GABRB1, GABA(A) receptor subunit beta-1 |
Description
GABRB1 encodes the beta1 subunit of the gamma-aminobutyric acid type A (GABAA) receptor, a pentameric ligand-gated chloride channel. Upon GABA binding, the receptor mediates fast inhibitory synaptic transmission in the brain. Mutations in GABRB1 are associated with epilepsy, intellectual disability, and neurodevelopmental disorders. The gene is expressed predominantly in the central nervous system.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Epileptic encephalopathy, early infantile, 45 (EIEE45) | Loss-of-function or gain-of-function mutations in GABRB1 impair GABAergic inhibition, leading to neuronal hyperexcitability. | ClinVar, OMIM #617153 |
| Intellectual developmental disorder with epilepsy (IDDE) | Missense variants reduce receptor surface expression or channel function, disrupting inhibitory neurotransmission. | ClinVar, OMIM #617153 |
| Autism spectrum disorder (ASD) | Rare de novo missense variants in GABRB1 identified in ASD cohorts; mechanism involves altered GABAergic signaling. | ClinVar, literature |
| Schizophrenia | Common variants in GABRB1 associated with schizophrenia risk; altered GABAergic inhibition implicated. | GWAS catalog, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.3 | Medium |
| Brain (cerebellum) | 8.7 | Medium |
| Brain (hippocampus) | 11.5 | Medium |
| Brain (amygdala) | 10.1 | Medium |
| Testis | 1.2 | Low |
| Other tissues | <1.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | High expression |
| U-87 MG (glioblastoma) | 9.8 | Moderate expression |
| HEK 293 (embryonic kidney) | 0.5 | Very low expression |
| HepG2 (liver) | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.860G>A (p.Arg287Gln) | Missense | Rare | Reduced channel conductance; associated with epileptic encephalopathy |
| c.764T>C (p.Leu255Pro) | Missense | Rare | Impaired receptor trafficking to cell surface; intellectual disability |
| c.1123G>A (p.Gly375Arg) | Missense | Rare | Gain-of-function; increased GABA sensitivity; epilepsy |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of protein expression; severe developmental phenotype |
Mutation functional classification
Loss of Function (LOF)
Missense variants that reduce channel open probability, decrease surface expression, or abolish GABA binding (e.g., p.Leu255Pro).
Gain of Function (GOF)
Missense variants that increase GABA sensitivity or channel open probability (e.g., p.Gly375Arg).
Dominant Negative (DN)
Some missense variants co-assemble with wild-type subunits and impair overall receptor function (e.g., p.Arg287Gln).
View complete mutation data：
Gene Ontology (GO)
Pathways
• GABAergic synapse (KEGG: hsa04727)
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
• Nicotine addiction (KEGG: hsa05033)
Protein Summary
The GABRB1 protein (beta1 subunit) is a 474-amino acid transmembrane protein with a large extracellular N-terminal domain containing the GABA-binding site, four transmembrane domains (M1-M4), and a cytoplasmic loop between M3 and M4 that mediates receptor trafficking and modulation. It assembles with alpha and gamma subunits to form functional GABAA receptors. The beta1 subunit contributes to the GABA-binding pocket and determines channel kinetics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GABRB1 Knockout HEK293 Cell Line | EDJ-KQ4656 | Human | 2560 | Details Get a Quote |
| GABRB1 Knockout HeLa Cell Line | EDJ-KQ53291 | Human | 2560 | Details Get a Quote |
| GABRB1 Knockout A-549 Cell Line | EDJ-KQ61773 | Human | 2560 | Details Get a Quote |
| GABRB1 Knockout HCT 116 Cell Line | EDJ-KQ70256 | Human | 2560 | Details Get a Quote |
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